DisGeNET - a database of gene-disease associations

ABCC8, ATP binding cassette subfamily C member 8, 6833

N. diseases: 317; N. variants: 213

Disease: DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder) ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs137852673

Entrez Id:	6833
Gene Symbol:	ABCC8

ABCC8

CUI:	C1835887
Disease:

DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder)

0.800

GeneticVariation

UNIPROT

Activating mutations in the ABCC8 gene in neonatal diabetes mellitus.

16885549

2006

dbSNP:

rs137852674

Entrez Id:	6833
Gene Symbol:	ABCC8

ABCC8

CUI:	C1835887
Disease:

DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder)

0.800

GeneticVariation

UNIPROT

Activating mutations in the ABCC8 gene in neonatal diabetes mellitus.

16885549

2006

dbSNP:

rs137852673

Entrez Id:	6833
Gene Symbol:	ABCC8

ABCC8

CUI:	C1835887
Disease:

DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder)

0.800

CausalMutation

CLINVAR

dbSNP:

rs137852674

Entrez Id:	6833
Gene Symbol:	ABCC8

ABCC8

CUI:	C1835887
Disease:

DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder)

0.800

CausalMutation

CLINVAR

dbSNP:

rs193922400

Entrez Id:	6833
Gene Symbol:	ABCC8

ABCC8

CUI:	C1835887
Disease:

DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder)

0.800

CausalMutation

CLINVAR

dbSNP:

rs193922400

Entrez Id:	6833
Gene Symbol:	ABCC8

ABCC8

CUI:	C1835887
Disease:

DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder)

0.800

GeneticVariation

UNIPROT

dbSNP:

rs1554948310

Entrez Id:	6833
Gene Symbol:	ABCC8

ABCC8

CUI:	C1835887
Disease:

DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder)

0.700

GeneticVariation

CLINVAR

dbSNP:

rs193922402

Entrez Id:	6833
Gene Symbol:	ABCC8

ABCC8

CUI:	C1835887
Disease:

DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder)

0.700

GeneticVariation

CLINVAR

dbSNP:

rs72559715

Entrez Id:	6833
Gene Symbol:	ABCC8

ABCC8

CUI:	C1835887
Disease:

DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder)

0.700

GeneticVariation

CLINVAR

dbSNP:

rs72559722

Entrez Id:	6833
Gene Symbol:	ABCC8

ABCC8

CUI:	C1835887
Disease:

DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder)

0.700

CausalMutation

CLINVAR

dbSNP:

rs72559734

Entrez Id:	6833
Gene Symbol:	ABCC8

ABCC8

CUI:	C1835887
Disease:

DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder)

0.700

CausalMutation

CLINVAR

dbSNP:

rs796891223

Entrez Id:	6833
Gene Symbol:	ABCC8

ABCC8

CUI:	C1835887
Disease:

DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder)

0.700

GeneticVariation

CLINVAR

dbSNP:

rs797045209

Entrez Id:	6833
Gene Symbol:	ABCC8

ABCC8

CUI:	C1835887
Disease:

DIABETES MELLITUS, TRANSIENT NEONATAL, 2 (disorder)

0.700

CausalMutation

CLINVAR